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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
COL1A2
Variant:
p.G1030D
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COL1A2
NM_000089.4:p.G1030D
hg38:chr7:94426514 G>A
Frequencies & domains
Associated Papers
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
Lindahl K et al.
Human Mutation,
2011
21344539 (PubMed
)
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